Disease ID | Disease name | Source of annotation with L1CAM | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
304100 | CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED | OMIM, HUMSAVAR | link to OMIM | 1 | L1CAM |
307000 | HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | L1CAM |
PS303350 | SPASTIC PARAPLEGIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 47 | KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, CYP2U1, L1CAM, TFG, ARL6IP1, AP4M1, ERLIN2, KIF1A, AMPD2, SPAST, SPG20, AP4S1, HSPD1, RTN2, PLP1, CYP7B1, REEP1, SPG21, TECPR2, BSCL2, PNPLA6, SPG7, VPS37A, NT5C2, NIPA1, DDHD1, CPT1C, ALDH18A1, ZFYVE27, AP4B1, FA2H |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Axon guidance | hsa04360 | 5.63 |
Cell adhesion molecules (CAMs) | hsa04514 | 5.36 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Signal transduction by L1 | R-HSA-445144 | 8.59 |
L1CAM interactions | R-HSA-373760 | 6.19 |
Interaction between L1 and Ankyrins | R-HSA-445095 | 8.03 |
Recycling pathway of L1 | R-HSA-437239 | 7.62 |
Cell surface interactions at the vascular wall | R-HSA-202733 | 6.32 |
Basigin interactions | R-HSA-210991 | 8.34 |
Axon guidance | R-HSA-422475 | 3.93 |
Hemostasis | R-HSA-109582 | 3.98 |
Developmental Biology | R-HSA-1266738 | 3.48 |